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TERT gene: its function and dysregulation in cancer
  1. Andrew J Colebatch1,
  2. Alexander Dobrovic2,3,4,5,
  3. Wendy A Cooper1,6,7
  1. 1 Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, Australia
  2. 2 Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia
  3. 3 School of Cancer Medicine and Molecular Cancer Prevention Program, La Trobe University, Melbourne, Victoria, Australia
  4. 4 Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia
  5. 5 Department of Surgery, The University of Melbourne, Heidelberg, Victoria, Australia
  6. 6 Sydney Medical School, The University of Sydney, Camperdown, New South Wales, Australia
  7. 7 School of Medicine, Western Sydney University, Sydney, New South Wales, Australia
  1. Correspondence to Dr Andrew J Colebatch, Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, Australia; andrew.colebatch{at}health.nsw.gov.au

Abstract

In this review, we summarise the function and structure of telomerase reverse transcriptase (TERT) in humans, including its regulation. The dysregulation of telomerase through TERT promoter mutations across a range of cancers is discussed. The molecular mechanism activated by TERT promoter mutations is outlined. Finally, the timing of TERT promoter mutations during carcinogenesis is reviewed in the context of their potential utility as clinical biomarkers of malignant transformation.

  • cancer genetics
  • cancer research
  • cancer

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Footnotes

  • Handling editor Des Richardson.

  • Contributors AJC was the main author. All authors contributed to the conception of the work and revising it critically, and approved the final version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Not required.

  • Provenance and peer review Commissioned; externally peer reviewed.

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